Sphingolipidosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SPH010 MIFTS: 47	Sphingolipidosis Categories: Genetic diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Sphingolipidosis

MalaCards integrated aliases for Sphingolipidosis:

Name: Sphingolipidosis ¹² ⁷⁵ ⁵³ ⁵⁹ ³⁷ ¹⁵

Sphingolipidoses ¹² ⁵³ ⁵⁵ ⁴⁴ ⁷²

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of sphingolipid metabolism and other lipid storage disorders

GM2 gangliosidosis

Other gangliosidosis

Other sphingolipidosis

Sphingolipidosis, unspecified

Orphanet: ⁵⁹

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:1927

KEGG ³⁷ H00423

MeSH ⁴⁴ D013106

NCIt ⁵⁰ C117254

SNOMED-CT ⁶⁸ 58459009

ICD10 ³³ E75.3

MESH via Orphanet ⁴⁵ D013106

ICD10 via Orphanet ³⁴ E75.0 E75.1 E75.2 more

UMLS via Orphanet ⁷³ C0037899

Orphanet ⁵⁹ ORPHA79225

UMLS ⁷² C0037899

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Summaries for Sphingolipidosis

KEGG : ³⁷

The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in one or more organs.

MalaCards based summary : Sphingolipidosis, also known as sphingolipidoses, is related to gaucher's disease and metachromatic leukodystrophy. An important gene associated with Sphingolipidosis is PSAP (Prosaposin), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Glycerol and Alendronate have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are no effect and behavior/neurological

Disease Ontology : ¹² A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.

Wikipedia : ⁷⁵ Sphingolipidoses are a class of lipid storage disorders relating to sphingolipid metabolism. The main... more...

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Related Diseases for Sphingolipidosis

Diseases related to Sphingolipidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)

#	Related Disease	Score	Top Affiliating Genes
1	gaucher's disease	33.5	PSAP GBA CHIT1 ARSA
2	metachromatic leukodystrophy	32.4	PSAP HEXA GALC ARSA
3	niemann-pick disease, type c1	31.4	SMPD1 PSAP NPC2 NPC1
4	gaucher disease, type i	31.3	PSAP HEXA GBA CHIT1
5	acid sphingomyelinase deficiency	31.1	SMPD1 NPC1
6	infantile krabbe disease	30.8	PSAP GALC
7	metachromatic leukodystrophy, juvenile form	30.7	PSAP ARSA
8	niemann-pick disease type c, juvenile neurologic onset	30.7	NPC2 NPC1
9	niemann-pick disease type c, adult neurologic onset	30.7	NPC2 NPC1
10	metachromatic leukodystrophy, late infantile form	30.7	PSAP ARSA
11	niemann-pick disease type c, severe early infantile neurologic onset	30.7	NPC2 NPC1
12	niemann-pick disease type c, late infantile neurologic onset	30.7	NPC2 NPC1
13	metachromatic leukodystrophy, adult form	30.7	PSAP ARSA
14	niemann-pick disease type c, severe perinatal form	30.7	NPC2 NPC1
15	gaucher disease, type ii	30.7	PSAP GBA
16	gaucher disease, perinatal lethal	30.6	HEXA GBA
17	cerebral lipidosis	30.6	HEXA GLB1
18	leukodystrophy	30.6	PSAP GALC ARSA
19	inherited metabolic disorder	30.3	NPC1 HEXA GLA GBA ARSA
20	niemann-pick disease, type c2	30.2	SMPD1 NPC2 NPC1
21	krabbe disease	30.2	PSAP GALC CHIT1 ARSA
22	niemann-pick disease, type a	30.2	SMPD1 NPC2 NPC1 CHIT1
23	niemann-pick disease	30.1	SMPD1 PSAP NPC2 NPC1 GBA CHIT1
24	niemann-pick disease, type b	30.0	SMPD1 NPC2 NPC1 HEXA
25	tay-sachs disease	29.3	PSAP HHEX HEXB HEXA GM2A GLB1
26	sandhoff disease	29.2	NPC1 HHEX HEXB HEXA GM2A
27	lysosomal storage disease	28.5	SMPD1 HEXB HEXA GLB1 GLA GBA
28	lipid storage disease	28.1	SMPD1 PSAP NPC2 NPC1 HEXA GLB1
29	sphingolipidosis with epilepsy	12.2
30	fabry disease	11.9
31	combined saposin deficiency	11.7
32	multiple sulfatase deficiency	11.5
33	sea-blue histiocyte disease	11.2
34	farber lipogranulomatosis	10.7
35	chitotriosidase deficiency	10.4	GBA CHIT1
36	glycoproteinosis	10.4	PSAP GLB1
37	gm1 gangliosidosis	10.3
38	gangliosidosis	10.3
39	inclusion-cell disease	10.3	PSAP GLB1 ARSA
40	neuraminidase deficiency	10.3	PSAP GLB1
41	scheie syndrome	10.2	HEXA GLB1 GLA
42	gaucher disease, type iii	10.1
43	leukodystrophy, hypomyelinating, 3	10.1
44	leukoencephalopathy with vanishing white matter	10.1
45	leukodystrophy, hypomyelinating, 2	10.1
46	peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	10.1
47	gaucher disease, atypical, due to saposin c deficiency	10.1
48	leukodystrophy, hypomyelinating, 4	10.1
49	leukodystrophy, hypomyelinating, 6	10.1
50	leukodystrophy, hypomyelinating, 9	10.1

Graphical network of the top 20 diseases related to Sphingolipidosis:

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Symptoms & Phenotypes for Sphingolipidosis

GenomeRNAi Phenotypes related to Sphingolipidosis according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	9.9	ADPRH ARSA ASAH2 BECN1 CHIT1 ETFA

MGI Mouse Phenotypes related to Sphingolipidosis:

⁴⁶ (show all 13)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.34	ARSA BECN1 GALC GBA GLA GLB1
2	homeostasis/metabolism	MP:0005376	10.31	ARSA ASAH2 BECN1 GALC GBA GLA
3	cellular	MP:0005384	10.29	BECN1 GALC GBA GLA GLB1 HEXB
4	growth/size/body region	MP:0005378	10.29	BECN1 GALC GBA GLA GLB1 HEXA
5	immune system	MP:0005387	10.25	ADPRH ARSA BECN1 CHIT1 GALC GBA
6	hematopoietic system	MP:0005397	10.2	ARSA BECN1 GALC GBA GLB1 HEXB
7	mortality/aging	MP:0010768	10.13	BECN1 GALC GBA GLA GLB1 HEXA
8	liver/biliary system	MP:0005370	10.11	GALC GBA GLA GLB1 HEXA HEXB
9	endocrine/exocrine gland	MP:0005379	10.1	BECN1 GBA HEXB HHEX NPC1 NPC2
10	nervous system	MP:0003631	10.1	ARSA BECN1 GALC GBA GLA GLB1
11	renal/urinary system	MP:0005367	9.7	GALC GLA GLB1 HEXA HEXB PSAP
12	respiratory system	MP:0005388	9.5	GBA HHEX NPC1 NPC2 PSAP RAB8A
13	vision/eye	MP:0005391	9.23	GALC GLA HEXA HEXB HHEX NPC1

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Drugs & Therapeutics for Sphingolipidosis

Drugs for Sphingolipidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Glycerol

Approved, Investigational

Phase 2, Phase 3

56-81-5

753

Alendronate

Approved

Phase 2

66376-36-1, 121268-17-5

2088

Calcium carbonate

Approved, Investigational

Phase 2

471-34-1

tannic acid

Approved

Phase 2

1401-55-4

Mesna

Approved, Investigational

Phase 2

3375-50-6

598

Mycophenolic acid

Approved

Phase 2

24280-93-1

446541

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Benzocaine

Approved, Investigational

Phase 2

94-09-7, 1994-09-7

2337

Acetylcysteine

Approved, Investigational

Phase 2

616-91-1

12035

Fludarabine

Approved

Phase 2

21679-14-1, 75607-67-9

30751

Celecoxib

Approved, Investigational

Phase 2

169590-42-5

2662

rituximab

Approved

Phase 2

174722-31-7

10201696

Tocopherol

Approved, Investigational

Phase 2

1406-66-2, 54-28-4

14986

Thiotepa

Approved, Investigational

Phase 2

52-24-4

5453

alemtuzumab

Approved, Investigational

Phase 2

216503-57-0

Cyclophosphamide

Approved, Investigational

Phase 2

50-18-0, 6055-19-2

2907

Busulfan

Approved, Investigational

Phase 2

55-98-1

2478

Vitamin D3

Approved, Nutraceutical

Phase 2

67-97-0

6221 5280795

Calcium

Approved, Nutraceutical

Phase 2

7440-70-2

271

Vitamin E

Approved, Nutraceutical, Vet_approved

Phase 2

59-02-9

14985

Tocotrienol

Investigational

Phase 2

6829-55-6

Antacids

Phase 2

Hormones

Phase 2

Micronutrients

Phase 2

Trace Elements

Phase 2

Nutrients

Phase 2

Anti-Ulcer Agents

Phase 2

Calciferol

Phase 2

Calcium, Dietary

Phase 2

Bone Density Conservation Agents

Phase 2

Anti-Infective Agents

Phase 2

Anti-Bacterial Agents

Phase 2

Antifungal Agents

Phase 2

Antibiotics, Antitubercular

Phase 2

Antitubercular Agents

Phase 2

Cyclosporins

Phase 2

Dermatologic Agents

Phase 2

Calcineurin Inhibitors

Phase 2

Vitamins

Phase 2

Tocotrienols

Phase 2

Alpha-lipoic Acid

Phase 2

Antilymphocyte Serum

Phase 2

Tocopherols

Phase 2

N-monoacetylcystine

Phase 2

Thioctic Acid

Phase 2

Antimetabolites

Phase 2

Antimetabolites, Antineoplastic

Phase 2

Immunologic Factors

Phase 2

Immunosuppressive Agents

Phase 2

Alkylating Agents

Phase 2

Interventional clinical trials:

(show all 19)

#	Name	Status	NCT ID	Phase	Drugs
1	Study of Glyceryl Trierucate and Glyceryl Trioleate (Lorenzo's Oil) Therapy in Male Children With Adrenoleukodystrophy	Suspended	NCT00004418	Phase 2, Phase 3	glyceryl trierucate;glyceryl trioleate
2	Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease	Unknown status	NCT00004293	Phase 2	glucocerebrosidase
3	Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease	Completed	NCT00004488	Phase 2	alendronate sodium;calcium carbonate;cholecalciferol
4	Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders	Completed	NCT01043640	Phase 2	Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
5	MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG	Recruiting	NCT02171104	Phase 2	IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
6	Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation	Terminated	NCT00668564	Phase 2	Cyclophosphamide;Campath-1H;Busulfan
7	Phase I Study of Retrovirally Mediated Transfer of the Human Glucocerebrosidase Gene Into Peripheral Blood Stem Cells for Autologous Transplantation in Patients With Type I Gaucher Disease	Completed	NCT00004294	Phase 1
8	A Study Evaluating BPX-501 T Cells and AP1903 for Prevention of Graft Versus Host Disease (GVHD) After Haploidentical, Related, T Cell-Depleted Hematopoietic Cell Transplantation for Non-Malignant Diseases	Active, not recruiting	NCT02231710	Phase 1
9	Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation	Unknown status	NCT00005900
10	Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy	Completed	NCT00004450		glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
11	A Multicenter Study to Evaluate and Characterize the Ex Vivo Effect of Pharmacological Chaperone Therapy in Blood Cell Lines Derived From Patients With Gaucher Disease	Completed	NCT00351156
12	Stem Cell Transplantation (SCT) for Genetic Diseases	Completed	NCT00004378
13	Lyso-Gb1 as Long-term Prognostic Biomarker in Gaucher Disease - an International Multicenter Epidemiological Study (LYSO-PROVE) to Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease	Recruiting	NCT02416661
14	Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease	Recruiting	NCT03233841
15	The Hunter James Kelly Research Institute's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry	Recruiting	NCT02993796
16	Biomarker for Gaucher Disease an International, Multicenter, Epidemiological Protocol	Recruiting	NCT01331642
17	Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL	Recruiting	NCT02298647
18	Natural History Study of Children With Metachromatic Leukodystrophy	Terminated	NCT01963650
19	Study of Bile Acids in Patients With Peroxisomal Disorders	Terminated	NCT00004442		chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Sphingolipidosis

Cochrane evidence based reviews: sphingolipidoses

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Genetic Tests for Sphingolipidosis

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Anatomical Context for Sphingolipidosis

MalaCards organs/tissues related to Sphingolipidosis:

⁴¹

Skin, Brain, Bone, T Cells, Testes, Liver, Bone Marrow

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Publications for Sphingolipidosis

Articles related to Sphingolipidosis:

(show top 50) (show all 320)

#	Title	Authors	PMID	Year
1	The pharmacological chaperone effect of N-octyl-beta-valienamine on human mutant acid beta-glucosidases. ⁹ ³⁸	Luan Z...Suzuki Y	19857976	2010
2	Application of a comprehensive protocol for the identification of Gaucher disease in Brazil. ⁹ ³⁸	Michelin K...Coelho JC	15937950	2005
3	Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. ⁹ ³⁸	Montfort M...Grinberg D	15146461	2004
4	Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients. ⁹ ³⁸	Fujiwaki T...Taketomi T	11934514	2002
5	A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. ⁹ ³⁸	Hulkova H...Elleder M	11309366	2001
6	Novel point mutation (W184R) in neonatal type 2 Gaucher disease. ⁹ ³⁸	Choy FY...Baldwin V	10679038	2000
7	Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in tissues from sphingolipidosis patients. ⁹ ³⁸	Fujiwaki T...Taketomi T	10491988	1999
8	Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease. ⁹ ³⁸	Cormand B...Grinberg D	9225972	1997
9	Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells. ⁹ ³⁸	Choy FY...Levin D	9240741	1996
10	Hematopoietic cell transplantation in the twitcher mouse. The effects of pretransplant conditioning with graded doses of busulfan. ⁹ ³⁸	Yeager AM...Pardoll DM	8101401	1993
11	Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region. ⁹ ³⁸	Choy FY...Der Kaloustian VM	1776640	1991
12	Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development. ³⁸	Kuil LE...van Ham TJ	31140649	2019
13	Emerging mechanisms of drug-induced phospholipidosis. ³⁸	Breiden B...Sandhoff K	31408430	2019
14	Ceramide synthase inhibition by fumonisins: a perfect storm of perturbed sphingolipid metabolism, signaling, and disease. ³⁸	Riley RT...Merrill AH	31048407	2019
15	DEGS1 variant causes neurological disorder. ³⁸	Dolgin V...Birk OS	31186544	2019
16	SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency. ³⁸	Settas N...Stratakis CA	30517686	2019
17	Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study. ³⁸	Polo G...Burlina AB	31091195	2019
18	Inhibition of the IGF-1-PI3K-Akt-mTORC2 pathway in lipid rafts increases neuronal vulnerability in a genetic lysosomal glycosphingolipidosis. ³⁸	Sural-Fehr T...Bongarzone ER	31036560	2019
19	Fabry disease in cardiology practice: Literature review and expert point of view. ³⁸	Hagege A...Germain DP	30826269	2019
20	ROS Scavenger, Ebselen, Has No Preventive Effect in New Hearing Loss Model Using a Cholesterol-Chelating Agent. ³⁸	Lee MY...Kim YH	30727719	2019
21	Sphingolipids and neuronal degeneration in lysosomal storage disorders. ³⁸	Grassi S...Prinetti A	29959861	2019
22	Defective Sphingolipids Metabolism and Tumor Associated Macrophages as the Possible Links Between Gaucher Disease and Blood Cancer Development. ³⁸	Watek M...Bucki R	30781349	2019
23	Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease. ³⁸	Crivaro AN...Rozenfeld PA	31150494	2019
24	Sphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism. ³⁸	Choi YJ...Saba JD	30274713	2019
25	Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases. ³⁸	Ivanova MM...Goker-Alpan O	30633777	2019
26	Sphingolipids in neurodegeneration (with focus on ceramide and S1P). ³⁸	Wang G...Bieberich E	30287225	2018
27	Niemann-Pick type C disease: The atypical sphingolipidosis. ³⁸	Newton J...Spiegel S	30205942	2018
28	Scope and Burden of Non-Standard of Care Hematopoietic Stem Cell Transplantation in Pediatric Leukodystrophy Patients. ³⁸	Bonkowsky JL...Shyr DC	30261790	2018
29	[Gaucher's disease - an overview about a sphingolipidosis]. ³⁸	Tamo R...Nowak A	30468119	2018
30	[The basics of lysosomal storage diseases]. ³⁸	Tamo R...Nowak A	30468118	2018
31	In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses. ³⁸	Duarte AJ...Amaral O	30384423	2018
32	Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders. ³⁸	Piraud M...Froissart R	29556840	2018
33	Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature. ³⁸	Voorink-Moret M...Vaz FM	29290526	2018
34	Optimization of ultra-high pressure liquid chromatography - tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their evaluation as biomarker candidates of Gaucher's disease. ³⁸	Chipeaux C...Moussa F	29061473	2017
35	A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease. ³⁸	Talbot A...Fuller M	28847675	2017
36	Recent advances and novel treatments for sphingolipidoses. ³⁸	Arenz C	28857617	2017
37	Diastereomer-specific quantification of bioactive hexosylceramides from bacteria and mammals. ³⁸	von Gerichten J...Sandhoff R	28373486	2017
38	Characterization of Drosophila Saposin-related mutants as a model for lysosomal sphingolipid storage diseases. ³⁸	Sellin J...Hoch M	28389479	2017
39	Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS. ³⁸	Polo G...Burlina AB	27533120	2017
40	RP-CARS reveals molecular spatial order anomalies in myelin of an animal model of Krabbe disease. ³⁸	de Vito G...Piazza V	26990139	2017
41	Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical 13C-encoded internal standards. ³⁸	Mirzaian M...Aerts JM	28089753	2017
42	Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. ³⁸	Prasad R...Metherell LA	28165343	2017
43	Lipid glycosylation: a primer for histochemists and cell biologists. ³⁸	Kopitz J	27999995	2017
44	[Fabry disease]. ³⁸	Stephan F...Haber R	28104284	2017
45	LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. ³⁸	Pettazzoni M...Cheillan D	28749998	2017
46	Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder. ³⁸	Pavuluri P...Kandi V	28168127	2017
47	Lysosphingolipids and sphingolipidoses: Psychosine in Krabbe's disease. ³⁸	Spassieva S...Bieberich E	27638582	2016
48	Port-to-port delivery: Mobilization of toxic sphingolipids via extracellular vesicles. ³⁸	Scesa G...Givogri MI	27638615	2016
49	Niemann-Pick type C: focus on the adolescent/adult onset form. ³⁸	Di Lazzaro V...De Santis S	26998855	2016
50	Synaptic failure: The achilles tendon of sphingolipidoses. ³⁸	Cantuti-Castelvetri L...Bongarzone ER	27638588	2016

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Genes for Sphingolipidosis

Genes related to Sphingolipidosis (0 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PSAP	Prosaposin	Protein Coding	34.16	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	9821868 9225972 11309366
2	GBA	Glucosylceramidase Beta	Protein Coding	30.58	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	15937950 15146461 19857976 (more) 1776640 10679038 9240741 9225972
3	NPC1	NPC Intracellular Cholesterol Transporter 1	Protein Coding	28.98	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	18579730
4	GLA	Galactosidase Alpha	Protein Coding	28.05	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
5	GALC	Galactosylceramidase	Protein Coding	27.92	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	2034480 8101401
6	ARSA	Arylsulfatase A	Protein Coding	27.69	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	18360747
7	CHIT1	Chitinase 1	Protein Coding	18.95	DISEASES inferred ¹⁵
8	GLB1	Galactosidase Beta 1	Protein Coding	18.7	DISEASES inferred ¹⁵
9	SMPD1	Sphingomyelin Phosphodiesterase 1	Protein Coding	18.48	DISEASES inferred ¹⁵
10	NPC2	NPC Intracellular Cholesterol Transporter 2	Protein Coding	18.42	DISEASES inferred ¹⁵
11	HEXA	Hexosaminidase Subunit Alpha	Protein Coding	17.62	DISEASES inferred ¹⁵
12	HHEX	Hematopoietically Expressed Homeobox	Protein Coding	17.59	DISEASES inferred ¹⁵
13	HEXB	Hexosaminidase Subunit Beta	Protein Coding	17.58	DISEASES inferred ¹⁵
14	GM2A	GM2 Ganglioside Activator	Protein Coding	17.48	DISEASES inferred ¹⁵
15	ETFA	Electron Transfer Flavoprotein Subunit Alpha	Protein Coding	17.26	DISEASES inferred ¹⁵
16	ASAH2	N-Acylsphingosine Amidohydrolase 2	Protein Coding	16.59	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11934514 10491988
17	BECN1	Beclin 1	Protein Coding	11.11	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	17468177 17611388
18	RAB8A	RAB8A, Member RAS Oncogene Family	Protein Coding	9.71	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	ADPRH	ADP-Ribosylarginine Hydrolase	Protein Coding	8.41	Novoseek inferred ⁵⁵	7477413

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Variations for Sphingolipidosis

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Expression for Sphingolipidosis

Search GEO for disease gene expression data for Sphingolipidosis.

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Pathways for Sphingolipidosis

Pathways related to Sphingolipidosis according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Sphingolipid metabolism	hsa00600
2	Lysosome	hsa04142

Pathways related to Sphingolipidosis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolic pathways ³⁷ Metabolism of lipids and lipoproteins ⁶⁶	13.78	SMPD1 PSAP NPC2 NPC1 HEXB HEXA
2	Sphingolipid metabolism ⁶⁶ ¹ ³⁷ Show member pathways ceramide de novo biosynthesis ¹ Glycosphingolipid metabolism ⁶⁶ Sphingolipid de novo biosynthesis ⁶⁶	12.1	SMPD1 PSAP HEXB HEXA GM2A GLB1
3	Keratan sulfate/keratin metabolism ⁶⁶ Show member pathways Glycosaminoglycan biosynthesis - keratan sulfate ³⁷ Keratan sulfate biosynthesis ⁶⁶ Keratan sulfate degradation ⁶⁶ lactose degradation III ¹	11.58	HEXB HEXA GLB1
4	Amino sugar and nucleotide sugar metabolism ³⁷ Show member pathways N-acetylglucosamine degradation I ¹ N-acetylglucosamine degradation II ¹ Synthesis of UDP-N-acetyl-glucosamine ⁶⁶ UDP-D-xylose and UDP-D-glucuronate biosynthesis ¹ UDP-N-acetyl-D-galactosamine biosynthesis II ¹ UDP-N-acetyl-D-glucosamine biosynthesis II ¹	11.5	HEXB HEXA CHIT1
5	Lysosome ³⁷	11.49	SMPD1 PSAP NPC2 NPC1 HEXB HEXA
6	Globo Sphingolipid Metabolism ¹ Show member pathways Glycosphingolipid biosynthesis - globo and isoglobo series ³⁷	11.15	HEXB HEXA GLA
7	Glycosphingolipid biosynthesis - ganglio series ³⁷ Show member pathways Ganglio Sphingolipid Metabolism ¹	10.99	HEXB HEXA GLB1
8	Glycosaminoglycan degradation ³⁷ Show member pathways Interaction With Cumulus Cells ⁶⁶	10.8	HEXB HEXA GLB1
9	Other glycan degradation ³⁷	10.71	HEXB HEXA GLB1 GBA
10	Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) ²² Show member pathways Cholesterol and Sphingolipids transport / Generic schema (normal and CF) ²²	10.62	NPC2 NPC1

Sources

GO Terms for Sphingolipidosis

Cellular components related to Sphingolipidosis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.97	SMPD1 PSAP NPC2 HEXB GLB1 GBA
2	endosome	GO:0005768	9.83	SMPD1 RAB8A NPC1 BECN1 ARSA
3	lysosomal lumen	GO:0043202	9.7	SMPD1 PSAP NPC2 HEXB HEXA GM2A
4	azurophil granule lumen	GO:0035578	9.63	NPC2 HEXB GM2A GLB1 GLA ARSA
5	lysosome	GO:0005764	9.44	SMPD1 PSAP NPC2 NPC1 HEXB HEXA
6	azurophil granule	GO:0042582	9.4	HEXB HEXA
7	extracellular region	GO:0005576	10.06	SMPD1 PSAP NPC2 NPC1 HEXB GM2A
8	extracellular exosome	GO:0070062	10.03	SMPD1 RAB8A PSAP NPC2 NPC1 HEXB

Biological processes related to Sphingolipidosis according to GeneCards Suite gene sharing:

(show all 23)

#	Name	GO ID	Score	Top Affiliating Genes
1	lipid metabolic process	GO:0006629	9.87	PSAP NPC2 NPC1 GM2A GBA GALC
2	neutrophil degranulation	GO:0043312	9.86	PSAP NPC2 HEXB GM2A GLB1 GLA
3	carbohydrate metabolic process	GO:0005975	9.8	HEXB HEXA GLB1 GLA CHIT1
4	autophagy	GO:0006914	9.78	RAB8A NPC1 BECN1 ARSA
5	lipid transport	GO:0006869	9.76	PSAP NPC2 NPC1 GM2A
6	cholesterol transport	GO:0030301	9.61	NPC2 NPC1
7	ceramide biosynthetic process	GO:0046513	9.61	SMPD1 GBA
8	positive regulation of protein dephosphorylation	GO:0035307	9.6	SMPD1 GBA
9	low-density lipoprotein particle clearance	GO:0034383	9.59	NPC2 NPC1
10	cholesterol efflux	GO:0033344	9.58	NPC2 NPC1
11	lipid storage	GO:0019915	9.58	HEXB GM2A
12	hyaluronan catabolic process	GO:0030214	9.57	HEXB HEXA
13	chondroitin sulfate catabolic process	GO:0030207	9.56	HEXB HEXA
14	metabolic process	GO:0008152	9.56	SMPD1 HEXB HEXA GLB1 GLA GBA
15	response to pH	GO:0009268	9.55	GBA ARSA
16	sphingolipid metabolic process	GO:0006665	9.55	PSAP GM2A GBA GALC ASAH2
17	oligosaccharide catabolic process	GO:0009313	9.54	HEXB GM2A
18	keratan sulfate catabolic process	GO:0042340	9.54	HEXB HEXA GLB1
19	sphingosine biosynthetic process	GO:0046512	9.52	GBA ASAH2
20	intracellular cholesterol transport	GO:0032367	9.51	NPC2 NPC1
21	ganglioside catabolic process	GO:0006689	9.49	HEXB GM2A
22	termination of signal transduction	GO:0023021	9.43	SMPD1 GBA
23	glycosphingolipid metabolic process	GO:0006687	9.28	SMPD1 PSAP HEXB HEXA GM2A GLB1

Molecular functions related to Sphingolipidosis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein homodimerization activity	GO:0042803	9.91	PSAP HHEX HEXB GLB1 GLA BECN1
2	hydrolase activity	GO:0016787	9.73	SMPD1 HEXB HEXA GM2A GLB1 GLA
3	acetylglucosaminyltransferase activity	GO:0008375	9.46	HEXB HEXA
4	beta-N-acetylhexosaminidase activity	GO:0004563	9.43	HEXB HEXA GM2A
5	beta-galactosidase activity	GO:0004565	9.4	PSAP GLB1
6	galactoside binding	GO:0016936	9.37	GLB1 GLA
7	hydrolase activity, hydrolyzing O-glycosyl compounds	GO:0004553	9.33	HEXB GLA CHIT1
8	N-acetyl-beta-D-galactosaminidase activity	GO:0102148	9.32	HEXB HEXA
9	hydrolase activity, acting on glycosyl bonds	GO:0016798	9.23	SMPD1 HEXB HEXA GLB1 GLA GBA

Sources

Sources for Sphingolipidosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia